Document Detail


The clinical and genetic spectrum of spinocerebellar ataxia 14.
MedLine Citation:
PMID:  15824357     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
Spinocerebellar ataxia 14 (SCA14) is associated with missense mutations in the protein kinase C gamma gene (PRKCG), rather than a nucleotide repeat expansion. In this large-scale study of PRKCG in patients with ataxia, two new missense mutations, an in-frame deletion, and a possible splice site mutation were found and can now be added to the four previously described missense mutations. The genotype/phenotype correlations in these families are described.
Authors:
D-H Chen; P J Cimino; L P W Ranum; H Y Zoghbi; I Yabe; L Schut; R L Margolis; H P Lipe; A Feleke; M Matsushita; J Wolff; C Morgan; D Lau; M Fernandez; H Sasaki; W H Raskind; T D Bird
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Publication Detail:
Type:  Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't; Research Support, U.S. Gov't, Non-P.H.S.; Research Support, U.S. Gov't, P.H.S.    
Journal Detail:
Title:  Neurology     Volume:  64     ISSN:  1526-632X     ISO Abbreviation:  Neurology     Publication Date:  2005 Apr 
Date Detail:
Created Date:  2005-04-12     Completed Date:  2006-02-10     Revised Date:  2009-11-19    
Medline Journal Info:
Nlm Unique ID:  0401060     Medline TA:  Neurology     Country:  United States    
Other Details:
Languages:  eng     Pagination:  1258-60     Citation Subset:  AIM; IM    
Affiliation:
Departments of Neurology, University of Washington, Seattle, USA.
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MeSH Terms
Descriptor/Qualifier:
Adolescent
Adult
Aged
Child
Child, Preschool
DNA Mutational Analysis
Female
Gene Deletion
Genetic Predisposition to Disease / genetics*
Genetic Testing
Genotype
Humans
Male
Middle Aged
Mutation / genetics*
Mutation, Missense / genetics
Phenotype
Protein Kinase C / chemistry,  genetics*
Protein Structure, Tertiary / genetics
RNA Splice Sites / genetics
Spinocerebellar Ataxias / enzymology*,  genetics*,  physiopathology
Grant Support
ID/Acronym/Agency:
P30 HD02274/HD/NICHD NIH HHS
Chemical
Reg. No./Substance:
0/RNA Splice Sites; EC 2.7.1.-/protein kinase C gamma; EC 2.7.11.13/Protein Kinase C
Comments/Corrections
Comment In:
Neurology. 2005 Apr 12;64(7):1113-4   [PMID:  15824330 ]

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine


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